Canonical Allele Identifier: CA036574

Gene: RET

Linked Data

• ClinVar Variation Id: 1466483
• ClinVar RCV Id: RCV001979626
• dbSNP Id: rs777122776
• ExAC: 10:43609963 G / T
• gnomAD v2: 10-43609963-G-T
• gnomAD v4: 10-43114515-G-T
• MyVariant Identifiers: chr10:g.43609963G>T (hg19) ; chr10:g.43114515G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43114515G>T , CM000672.2:g.43114515G>T	GRCh38
NC_000010.10:g.43609963G>T , CM000672.1:g.43609963G>T	GRCh37
NC_000010.9:g.42929969G>T	NCBI36
NG_007489.1:g.42447G>T , LRG_518:g.42447G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615310.5:c.1519G>T	ENSP00000480088.2:p.Ala507Ser
ENST00000683007.1:n.1489G>T
ENST00000683872.1:n.1480G>T
ENST00000340058.6:c.1915G>T	ENSP00000344798.4:p.Ala639Ser
ENST00000355710.8:c.1915G>T MANE Select	ENSP00000347942.3:p.Ala639Ser
ENST00000671844.1:c.*509G>T	ENSP00000500541.1:n.*509G>T
ENST00000672389.1:c.*509G>T	ENSP00000500252.1:n.*509G>T
ENST00000340058.5:c.1915G>T	ENSP00000344798.4:p.Ala639Ser
ENST00000355710.7:c.1915G>T	ENSP00000347942.3:p.Ala639Ser
ENST00000498820.5:c.466G>T	ENSP00000419080.1:p.Ala156Ser
ENST00000615310.4:c.1289+3283G>T	ENSP00000480088.1:n.1289+3283G>T
NM_020630.4:c.1915G>T , LRG_518t2:c.1915G>T	NP_065681.1:p.Ala639Ser
NM_020975.4:c.1915G>T , LRG_518t1:c.1915G>T	NP_066124.1:p.Ala639Ser
XM_011540027.1:c.1915G>T	XP_011538329.1:p.Ala639Ser
NM_001355216.1:c.1153G>T	NP_001342145.1:p.Ala385Ser
NM_020630.5:c.1915G>T	NP_065681.1:p.Ala639Ser
NM_020975.5:c.1915G>T	NP_066124.1:p.Ala639Ser
NM_020975.6:c.1915G>T MANE Select	NP_066124.1:p.Ala639Ser
NM_020630.6:c.1915G>T	NP_065681.1:p.Ala639Ser